Incidental Mutation 'R0562:Grm5'
ID 45944
Institutional Source Beutler Lab
Gene Symbol Grm5
Ensembl Gene ENSMUSG00000049583
Gene Name glutamate receptor, metabotropic 5
Synonyms mGluR5, 6430542K11Rik, Gprc1e, Glu5R
MMRRC Submission 038753-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.145) question?
Stock # R0562 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 87233376-87784115 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87252227 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 159 (N159S)
Ref Sequence ENSEMBL: ENSMUSP00000114927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107263] [ENSMUST00000125009] [ENSMUST00000155358]
AlphaFold Q3UVX5
Predicted Effect probably damaging
Transcript: ENSMUST00000107263
AA Change: N159S

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102884
Gene: ENSMUSG00000049583
AA Change: N159S

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:ANF_receptor 67 471 5.4e-97 PFAM
Pfam:Peripla_BP_6 130 332 2.5e-14 PFAM
Pfam:NCD3G 506 557 4.5e-20 PFAM
Pfam:7tm_3 588 824 7.4e-75 PFAM
low complexity region 851 860 N/A INTRINSIC
low complexity region 929 954 N/A INTRINSIC
low complexity region 968 987 N/A INTRINSIC
low complexity region 1046 1056 N/A INTRINSIC
GluR_Homer-bdg 1121 1171 1.42e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000125009
AA Change: N159S

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118393
Gene: ENSMUSG00000049583
AA Change: N159S

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:ANF_receptor 67 471 5.7e-101 PFAM
Pfam:Peripla_BP_6 129 327 5.4e-12 PFAM
Pfam:NCD3G 506 557 3.2e-16 PFAM
Pfam:7tm_3 590 823 3.5e-56 PFAM
low complexity region 851 860 N/A INTRINSIC
low complexity region 929 954 N/A INTRINSIC
low complexity region 968 987 N/A INTRINSIC
low complexity region 1046 1056 N/A INTRINSIC
GluR_Homer-bdg 1121 1171 1.42e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138732
Predicted Effect probably damaging
Transcript: ENSMUST00000155358
AA Change: N159S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114927
Gene: ENSMUSG00000049583
AA Change: N159S

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:ANF_receptor 67 471 4.1e-101 PFAM
Pfam:Peripla_BP_6 129 327 2.5e-12 PFAM
Pfam:NCD3G 506 557 9.4e-17 PFAM
Pfam:7tm_3 590 823 1.3e-56 PFAM
low complexity region 851 860 N/A INTRINSIC
low complexity region 961 986 N/A INTRINSIC
low complexity region 1000 1019 N/A INTRINSIC
low complexity region 1078 1088 N/A INTRINSIC
GluR_Homer-bdg 1153 1203 1.42e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000167164
AA Change: N159S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129181
Gene: ENSMUSG00000049583
AA Change: N159S

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:ANF_receptor 67 471 4.1e-101 PFAM
Pfam:Peripla_BP_6 129 327 2.5e-12 PFAM
Pfam:NCD3G 506 557 9.4e-17 PFAM
Pfam:7tm_3 590 823 1.3e-56 PFAM
low complexity region 851 860 N/A INTRINSIC
low complexity region 961 986 N/A INTRINSIC
low complexity region 1000 1019 N/A INTRINSIC
low complexity region 1078 1088 N/A INTRINSIC
GluR_Homer-bdg 1153 1203 1.42e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208776
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208791
Meta Mutation Damage Score 0.2927 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency 100% (77/77)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the G-protein coupled receptor 3 protein family. The encoded protein is a metabatropic glutamate receptor, whose signaling activates a phosphatidylinositol-calcium second messenger system. This protein may be involved in the regulation of neural network activity and synaptic plasticity. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. A pseudogene of this gene has been defined on chromosome 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygous null mice have reduced corticostriatal long term potentiation, do not exhibit hyperactivity after cocaine consumption and do not self-administer cocaine. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb C T 7: 131,027,518 (GRCm39) Q63* probably null Het
Adam26b A T 8: 43,973,408 (GRCm39) N531K probably benign Het
Agt A G 8: 125,286,014 (GRCm39) I356T probably benign Het
Ankmy1 A T 1: 92,827,413 (GRCm39) probably benign Het
Anxa3 C T 5: 96,960,743 (GRCm39) S49L possibly damaging Het
Arap3 C A 18: 38,108,593 (GRCm39) R1279L probably damaging Het
Azin1 A G 15: 38,493,825 (GRCm39) I266T probably benign Het
Btnl7-ps T C 17: 34,752,498 (GRCm39) noncoding transcript Het
Car5a T A 8: 122,671,469 (GRCm39) T22S probably benign Het
Card6 A G 15: 5,134,648 (GRCm39) I185T probably damaging Het
Ccdc81 T C 7: 89,552,437 (GRCm39) D11G probably benign Het
Cep170b T C 12: 112,705,623 (GRCm39) V1127A probably benign Het
Ces1h T C 8: 94,083,771 (GRCm39) I390M unknown Het
Col9a1 T A 1: 24,218,360 (GRCm39) probably null Het
Cwc27 C A 13: 104,797,865 (GRCm39) E365* probably null Het
Cyb561a3 T C 19: 10,564,074 (GRCm39) V138A probably benign Het
Dcaf1 T C 9: 106,721,321 (GRCm39) probably benign Het
Dnah17 A G 11: 117,963,726 (GRCm39) Y2516H probably damaging Het
Dsc2 T A 18: 20,174,594 (GRCm39) N521Y probably damaging Het
Dst G A 1: 34,267,062 (GRCm39) E4835K probably damaging Het
Duox2 T C 2: 122,120,080 (GRCm39) E810G probably damaging Het
Dusp15 T C 2: 152,793,268 (GRCm39) N3S possibly damaging Het
Eif1ad9 A G 12: 88,296,436 (GRCm39) D138G unknown Het
Epha4 T C 1: 77,365,124 (GRCm39) K625R probably benign Het
Fcgbpl1 G A 7: 27,862,115 (GRCm39) V2394I probably benign Het
Gata5 C T 2: 179,969,552 (GRCm39) probably null Het
Hivep3 T A 4: 119,953,751 (GRCm39) M689K probably benign Het
Ift56 T A 6: 38,378,064 (GRCm39) V292E probably damaging Het
Ilvbl G T 10: 78,419,321 (GRCm39) G499C probably damaging Het
Inpp4b T C 8: 82,494,780 (GRCm39) I65T possibly damaging Het
Jarid2 T C 13: 45,055,835 (GRCm39) V208A probably damaging Het
Kcnh4 T C 11: 100,641,070 (GRCm39) M460V possibly damaging Het
Klhl22 A G 16: 17,610,488 (GRCm39) N580D probably benign Het
Klk15 T A 7: 43,588,269 (GRCm39) C192* probably null Het
Klk1b9 A G 7: 43,445,090 (GRCm39) E194G probably damaging Het
Lama1 G T 17: 68,122,954 (GRCm39) G2779V probably damaging Het
Lmln C T 16: 32,937,455 (GRCm39) R607* probably null Het
Maea T C 5: 33,529,645 (GRCm39) V377A probably benign Het
Matk A T 10: 81,095,525 (GRCm39) Y115F probably benign Het
Mettl18 A G 1: 163,824,062 (GRCm39) K128E probably benign Het
Mrps22 T C 9: 98,474,746 (GRCm39) H246R probably benign Het
Msln A T 17: 25,971,980 (GRCm39) M79K probably benign Het
Myf6 G A 10: 107,330,420 (GRCm39) P49L probably benign Het
Nat1 C T 8: 67,943,963 (GRCm39) T113I possibly damaging Het
Ncor2 C T 5: 125,162,093 (GRCm39) V394M unknown Het
Oas1c T C 5: 120,943,669 (GRCm39) probably benign Het
Or8k21 T A 2: 86,144,869 (GRCm39) T254S probably benign Het
Otp A T 13: 95,013,917 (GRCm39) T112S probably damaging Het
Pcdh7 A G 5: 57,877,405 (GRCm39) N320S probably damaging Het
Pdzd2 G T 15: 12,592,364 (GRCm39) F93L probably damaging Het
Phf20l1 A G 15: 66,481,453 (GRCm39) E283G probably damaging Het
Polr1e T C 4: 45,029,421 (GRCm39) F342S probably damaging Het
Pp2d1 T A 17: 53,846,196 (GRCm39) probably benign Het
Ptpn13 T A 5: 103,664,291 (GRCm39) probably null Het
Reg3g A T 6: 78,444,471 (GRCm39) H107Q possibly damaging Het
Rgl1 T C 1: 152,415,696 (GRCm39) K408E probably damaging Het
Samd4 T C 14: 47,314,966 (GRCm39) C309R probably damaging Het
Sestd1 C A 2: 77,061,066 (GRCm39) W104L probably benign Het
Sfmbt1 T A 14: 30,533,330 (GRCm39) probably null Het
Slc22a21 T A 11: 53,870,446 (GRCm39) K80* probably null Het
Snx20 T A 8: 89,356,630 (GRCm39) Q62L probably benign Het
Spef1l T C 7: 139,557,026 (GRCm39) M120V probably benign Het
Stk40 C A 4: 126,032,594 (GRCm39) probably benign Het
Taf2 A T 15: 54,885,584 (GRCm39) probably benign Het
Tcf23 C T 5: 31,127,654 (GRCm39) P152L probably damaging Het
Tex29 T C 8: 11,894,138 (GRCm39) probably benign Het
Tjp3 A G 10: 81,116,389 (GRCm39) V235A probably damaging Het
Tns3 A T 11: 8,443,262 (GRCm39) I367N possibly damaging Het
Ttn T A 2: 76,543,255 (GRCm39) M33244L probably benign Het
Ush2a A T 1: 188,089,044 (GRCm39) N333I probably damaging Het
Usp34 T C 11: 23,382,406 (GRCm39) probably benign Het
Vmn1r204 A C 13: 22,740,848 (GRCm39) S160R probably benign Het
Vmn2r75 C T 7: 85,797,449 (GRCm39) W788* probably null Het
Vwa5b1 T C 4: 138,363,022 (GRCm39) probably benign Het
Zbtb7a A G 10: 80,984,163 (GRCm39) E535G probably benign Het
Zfp1004 T A 2: 150,034,494 (GRCm39) C303S probably damaging Het
Zranb3 T C 1: 127,964,295 (GRCm39) D144G probably benign Het
Other mutations in Grm5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Grm5 APN 7 87,779,989 (GRCm39) missense probably benign 0.00
IGL00970:Grm5 APN 7 87,453,104 (GRCm39) missense probably damaging 0.97
IGL01286:Grm5 APN 7 87,251,773 (GRCm39) missense probably benign 0.00
IGL01307:Grm5 APN 7 87,724,220 (GRCm39) missense probably damaging 1.00
IGL01603:Grm5 APN 7 87,252,386 (GRCm39) missense probably damaging 1.00
IGL01646:Grm5 APN 7 87,689,267 (GRCm39) missense probably damaging 1.00
IGL01705:Grm5 APN 7 87,779,254 (GRCm39) missense possibly damaging 0.59
IGL02184:Grm5 APN 7 87,675,650 (GRCm39) missense probably damaging 0.98
IGL02504:Grm5 APN 7 87,779,980 (GRCm39) missense probably benign
IGL02689:Grm5 APN 7 87,251,918 (GRCm39) missense probably damaging 1.00
IGL02725:Grm5 APN 7 87,723,873 (GRCm39) missense probably damaging 1.00
IGL02851:Grm5 APN 7 87,723,918 (GRCm39) missense probably damaging 0.98
IGL03106:Grm5 APN 7 87,685,278 (GRCm39) missense probably damaging 1.00
IGL03257:Grm5 APN 7 87,252,106 (GRCm39) missense possibly damaging 0.69
IGL03291:Grm5 APN 7 87,780,004 (GRCm39) missense probably damaging 1.00
BB004:Grm5 UTSW 7 87,685,382 (GRCm39) missense probably benign 0.16
BB014:Grm5 UTSW 7 87,685,382 (GRCm39) missense probably benign 0.16
R0078:Grm5 UTSW 7 87,724,185 (GRCm39) missense probably damaging 1.00
R0314:Grm5 UTSW 7 87,252,163 (GRCm39) missense probably damaging 0.97
R0318:Grm5 UTSW 7 87,252,175 (GRCm39) missense probably damaging 0.99
R0364:Grm5 UTSW 7 87,723,594 (GRCm39) missense probably damaging 1.00
R0380:Grm5 UTSW 7 87,723,584 (GRCm39) missense possibly damaging 0.92
R0454:Grm5 UTSW 7 87,779,997 (GRCm39) missense probably damaging 1.00
R0494:Grm5 UTSW 7 87,779,989 (GRCm39) missense probably benign 0.00
R1695:Grm5 UTSW 7 87,685,311 (GRCm39) missense possibly damaging 0.47
R2012:Grm5 UTSW 7 87,724,080 (GRCm39) missense probably damaging 1.00
R2384:Grm5 UTSW 7 87,251,936 (GRCm39) missense probably damaging 1.00
R2510:Grm5 UTSW 7 87,685,299 (GRCm39) missense probably benign 0.21
R2870:Grm5 UTSW 7 87,251,930 (GRCm39) missense possibly damaging 0.85
R2870:Grm5 UTSW 7 87,251,930 (GRCm39) missense possibly damaging 0.85
R3861:Grm5 UTSW 7 87,779,202 (GRCm39) missense possibly damaging 0.94
R4451:Grm5 UTSW 7 87,724,340 (GRCm39) critical splice donor site probably null
R4626:Grm5 UTSW 7 87,779,361 (GRCm39) missense probably damaging 1.00
R4728:Grm5 UTSW 7 87,624,496 (GRCm39) missense probably damaging 1.00
R4914:Grm5 UTSW 7 87,779,337 (GRCm39) missense probably benign 0.00
R5122:Grm5 UTSW 7 87,724,028 (GRCm39) missense probably damaging 1.00
R5352:Grm5 UTSW 7 87,724,058 (GRCm39) missense probably damaging 1.00
R5361:Grm5 UTSW 7 87,723,704 (GRCm39) missense probably damaging 1.00
R5684:Grm5 UTSW 7 87,779,853 (GRCm39) missense probably benign
R5715:Grm5 UTSW 7 87,779,464 (GRCm39) missense probably benign 0.05
R5759:Grm5 UTSW 7 87,675,808 (GRCm39) missense probably damaging 0.96
R5844:Grm5 UTSW 7 87,453,232 (GRCm39) missense possibly damaging 0.88
R5889:Grm5 UTSW 7 87,252,281 (GRCm39) missense probably damaging 1.00
R6048:Grm5 UTSW 7 87,675,758 (GRCm39) missense probably damaging 1.00
R6145:Grm5 UTSW 7 87,675,809 (GRCm39) missense probably damaging 1.00
R6232:Grm5 UTSW 7 87,251,638 (GRCm39) unclassified probably benign
R6972:Grm5 UTSW 7 87,252,131 (GRCm39) missense probably benign 0.02
R7072:Grm5 UTSW 7 87,723,512 (GRCm39) missense probably damaging 1.00
R7258:Grm5 UTSW 7 87,723,914 (GRCm39) missense probably damaging 0.96
R7316:Grm5 UTSW 7 87,624,473 (GRCm39) missense probably benign
R7434:Grm5 UTSW 7 87,779,682 (GRCm39) missense probably benign 0.10
R7521:Grm5 UTSW 7 87,723,480 (GRCm39) missense possibly damaging 0.86
R7616:Grm5 UTSW 7 87,765,409 (GRCm39) missense probably benign
R7631:Grm5 UTSW 7 87,624,513 (GRCm39) missense probably damaging 1.00
R7655:Grm5 UTSW 7 87,779,459 (GRCm39) missense probably benign 0.00
R7656:Grm5 UTSW 7 87,779,459 (GRCm39) missense probably benign 0.00
R7739:Grm5 UTSW 7 87,779,266 (GRCm39) missense possibly damaging 0.46
R7897:Grm5 UTSW 7 87,780,069 (GRCm39) missense probably benign 0.14
R7927:Grm5 UTSW 7 87,685,382 (GRCm39) missense probably benign 0.16
R7967:Grm5 UTSW 7 87,624,569 (GRCm39) missense probably damaging 0.99
R8260:Grm5 UTSW 7 87,724,340 (GRCm39) critical splice donor site probably null
R8345:Grm5 UTSW 7 87,723,746 (GRCm39) missense probably damaging 1.00
R8460:Grm5 UTSW 7 87,252,249 (GRCm39) missense probably damaging 1.00
R8473:Grm5 UTSW 7 87,252,278 (GRCm39) missense probably damaging 0.97
R8531:Grm5 UTSW 7 87,779,724 (GRCm39) missense probably benign 0.05
R8671:Grm5 UTSW 7 87,765,498 (GRCm39) critical splice donor site probably null
R8805:Grm5 UTSW 7 87,453,176 (GRCm39) missense probably damaging 1.00
R9036:Grm5 UTSW 7 87,685,397 (GRCm39) missense possibly damaging 0.94
R9106:Grm5 UTSW 7 87,723,747 (GRCm39) missense probably damaging 1.00
R9136:Grm5 UTSW 7 87,689,254 (GRCm39) missense possibly damaging 0.95
R9189:Grm5 UTSW 7 87,724,024 (GRCm39) missense probably damaging 1.00
R9196:Grm5 UTSW 7 87,723,518 (GRCm39) missense probably damaging 1.00
R9232:Grm5 UTSW 7 87,723,591 (GRCm39) missense probably damaging 1.00
R9234:Grm5 UTSW 7 87,723,440 (GRCm39) missense probably damaging 1.00
R9384:Grm5 UTSW 7 87,723,518 (GRCm39) missense probably damaging 1.00
R9424:Grm5 UTSW 7 87,765,484 (GRCm39) missense probably benign 0.00
R9531:Grm5 UTSW 7 87,780,075 (GRCm39) makesense probably null
R9631:Grm5 UTSW 7 87,624,560 (GRCm39) missense probably damaging 0.98
R9691:Grm5 UTSW 7 87,723,903 (GRCm39) missense probably damaging 1.00
Z1176:Grm5 UTSW 7 87,251,923 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCTGTGAGATAAGAGATTCCTGCTG -3'
(R):5'- GCCGAGAAGTTGGAAAGTATCACATACC -3'

Sequencing Primer
(F):5'- GCTTGGTACGCTGTGTAGAT -3'
(R):5'- ATCCGAAGGTACAACCCTCA -3'
Posted On 2013-06-11